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Dermatology (Basel, Switzerland) 2010A 23-year-old man with a typical trichilemmal cyst nevus is reported. This recently described disorder is sufficiently characteristic to differentiate it from sebaceous... (Review)
Review
A 23-year-old man with a typical trichilemmal cyst nevus is reported. This recently described disorder is sufficiently characteristic to differentiate it from sebaceous nevus, nevus comedonicus, porokeratotic eccrine nevus, nevus corniculatus, follicular basaloid hamartoma, Munro's nevus and Gardner's syndrome.
Topics: Dermatologic Agents; Epidermal Cyst; Facial Neoplasms; Humans; Isotretinoin; Male; Nevus; Skin Neoplasms; Sweat Gland Neoplasms; Treatment Outcome; Young Adult
PubMed: 20720396
DOI: 10.1159/000318903 -
Pediatric Reports May 2021Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous disorder. It is characterized by the presence of nevus sebaceous, ocular anomalies, neurological...
Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous disorder. It is characterized by the presence of nevus sebaceous, ocular anomalies, neurological deficits, and convulsion. Renal involvement was not commonly reported. We report a 10-year-old girl with LNSS who had concomitant cystic kidney disease and diffuse aortopathy with bilateral renal artery stenosis, leading to hypertension requiring oral anti-hypertensive medications. The girl presented with chorioretinal coloboma and multiple nevus sebaceous at birth. She had aortic coarctation and received surgical repair at one week of life. She had persistent hypertension during her follow-up. Further investigations were performed to look for causes of hypertension apart from possible re-coarctation. Her magnetic resonance angiogram revealed diffuse aortopathy, which extended from the aortic arch to the abdominal aorta. Branches of the aorta, including the celiac trunk, superior mesenteric arteries, and renal arteries, were also narrowed. Multiple renal cysts were also identified in her right kidney. Interventional angioplasty over the renal arteries was not feasible due to diffuse narrowing of the aorta, especially at the origins of renal arteries. The blood pressure was controlled with oral anti-hypertensive medications. Our case illustrated that pediatricians should be aware of the possible renal involvements in LNSS, which impose a significant impact on the management and long-term prognosis of these patients.
PubMed: 34062947
DOI: 10.3390/pediatric13020028 -
Beyoglu Eye Journal 2020This study was an evaluation of demographic and histopathologic features of eyelid lesions.
OBJECTIVES
This study was an evaluation of demographic and histopathologic features of eyelid lesions.
METHODS
The medical records of 261 patients (296 eyelid lesions) who attended a single clinic between 1997 and 2011 were examined retrospectively. The incidence of benign and malignant lesions, the pathological classification, and age and sex data were investigated.
RESULTS
A total of 204 benign lesions (68.9%) and 92 malignant neoplasms (31.1%) were found. Among these, the most frequently seen types of benign neoplasms were xanthelasma (28.4%), papilloma (14.7%), chalazion (8.8%), nevus (6.4%), moll cyst (5.9%), and capillary hemangioma (4.9%). The most frequently seen malignant neoplasms were basal cell carcinoma (72.8%), squamous cell carcinoma (13%), and sebaceous gland carcinoma (5.4%). The study group was made up of 149 (57%) female patients and 112 (43%) male patients. The majority of benign lesions were seen in women, whereas malignant neoplasms were observed more often in male patients. The mean age of patients with benign lesions and malignant neoplasms was 38.1±21.7 and 62.7±15.3 years, respectively. Benign lesions involved the upper eyelid more frequently than the lower, while malignant lesions were seen more frequently in the lower eyelid, with the exception of sebaceous gland carcinoma.
CONCLUSION
The majority of eyelid lesions were benign and malignant neoplasms were seen more frequently in the older population. Basal cell carcinoma was the most common malignant eyelid tumor. The most common site of malignant tumor origin was the lower eyelid, with the exception of sebaceous gland carcinoma.
PubMed: 35098073
DOI: 10.14744/bej.2020.53824 -
Revista Chilena de Pediatria 2015Childhood alopecia is a relative rare event in general paediatric dermatology practice. Hair loss in children may have multiple causes, and there are different types of...
INTRODUCTION
Childhood alopecia is a relative rare event in general paediatric dermatology practice. Hair loss in children may have multiple causes, and there are different types of alopecia according to age groups. The aim of the study was to describe the clinical and epidemiological profile of alopecia in children from two Chilean paediatric hospitals.
PATIENTS AND METHOD
Descriptive analysis of clinical records of patients from the Dermatology Department of Roberto del Rio and Luis Calvo Mackenna Hospitals between January 2007 and June 2010. Patients with clinical diagnosis of alopecia were included.
RESULTS
A total of 345 clinical records were analysed, with 179 males (51.9%). The median age was 72 months. Overall, the most common diagnoses were: alopecia areata (AA), (36.8%), tinea capitis (TC), (21%), nevus sebaceous (13.2%), and tellogen effluvium (8.7%). According to age groups, in newborns, the most common causes were aplasia cutis and nevus sebaceous. In toddlers, pre-school and school children, the principal causes were nevus sebaceous, AA and TC. Trichotillomania was also significant in school children. In adolescents, nevus sebaceous, AA and tellogen effluvium were the most frequent diagnoses. AA was statistically associated with autoimmune disease, thyroid disease, nail disorder, psychiatric disease, and Down's syndrome. The most common aetiological agent in TC was M. canis (86.6%). Trichotillomania was also statistically associated to psychiatric disorders.
CONCLUSIONS
In this study, the main causes of alopecia in children were acquired and non-scarring alopecia. In our results, the type of alopecia varies according to age group. Some types of childhood alopecia showed a close correlation to psychiatric disorders.
Topics: Adolescent; Age Factors; Alopecia; Alopecia Areata; Child; Child, Preschool; Chile; Female; Humans; Infant; Infant, Newborn; Male; Retrospective Studies; Tinea Capitis; Trichotillomania
PubMed: 26298298
DOI: 10.1016/j.rchipe.2015.06.015 -
Archives of Craniofacial Surgery Apr 2022Nevus sebaceous of Jadassohn is a congenital cutaneous hamartoma with epidermal, sebaceous, follicular, and apocrine structures that usually appears at birth or in early...
Nevus sebaceous of Jadassohn is a congenital cutaneous hamartoma with epidermal, sebaceous, follicular, and apocrine structures that usually appears at birth or in early childhood. It has the potential to generate a variety of secondary neoplasms of different lineages, and the risk increases with patient age. Although multiple neoplasms may occasionally arise within the same lesion, the coexistence of more than five secondary tumors is extremely rare. Here we report a case of seven secondary tumors including syringocystadenoma papilliferum, desmoplastic trichilemmoma, sebaceoma, trichoblastoma, pigmented trichoblastoma, sebaceous adenoma, and tumor of follicular infundibulum arising within a nevus sebaceous. The complete diagnosis relies on the histopathological analysis of multipoint biopsies and delicate pathological sections.
PubMed: 35350087
DOI: 10.7181/acfs.2022.00101 -
Indian Dermatology Online Journal 2021Nevus sebaceous of Jadassohn is a cutaneous hamartoma that is associated with various benign and malignant cutaneous tumors. Syringocystadenoma papilliferum and tubular...
Nevus sebaceous of Jadassohn is a cutaneous hamartoma that is associated with various benign and malignant cutaneous tumors. Syringocystadenoma papilliferum and tubular apocrine adenoma are rare benign adnexal tumors. Simultaneous occurrence of all three tumors at the same site is extremely rare, which has raised several questions regarding their origin and pose a diagnostic challenge owing to considerable overlap in clinical and histological features. However, limited case reports have hindered our understanding of these tumors and their natural behavior. Herein, we report a case of a hairless scalp plaque in a 43-year-old male which on histological examination showed presence of syringocystadenoma papilliferum and tubular apocrine adenoma in the background of nevus sebaceous. We also made an attempt to review the available literature and understand the origin and look for clues to aid in accurate diagnosis of such tumors.
PubMed: 34430463
DOI: 10.4103/idoj.IDOJ_519_20 -
Medicine Mar 2021Nevus sebaceous (NS) is a lesion caused by congenital hyperplastic disorder of the sebaceous glands. It commonly noted in the scalp and face and rarely in the trunk,... (Review)
Review
RATIONALE
Nevus sebaceous (NS) is a lesion caused by congenital hyperplastic disorder of the sebaceous glands. It commonly noted in the scalp and face and rarely in the trunk, neck, or oral mucosa. We present a rare case of a lesion arising in the genital region.
PATIENT CONCERNS
A 47-year-old woman complained of a gradual increase in the size of her bilateral labia minora over 2 years, which affected her sexual life and caused walking difficulty. She was admitted to the Department of Obstetrics and Gynecology. On physical examination, no ulcer, discharge, and vulval or vaginal bleeding were found. The bilateral inguinal lymph nodes were not palpable, bilateral labia minora were asymmetric, and the right side was evidently bigger than the left. The labia minora had serrated edges and numerous papillae with a maximum diameter of 0.5 cm. The vagina, cervix, and uterus with its attachments were normal. Blood samples tested negative for human immunodeficiency virus, human papilloma virus, hepatitis B virus, and hepatitis C virus.
DIAGNOSIS
A diagnosis of NS of the bilateral labia minora was made following histopathological examination of the resected specimen.
INTERVENTION
The bilateral labia minora lesions were resected general anesthesia on August 29, 2016. The operation was successful, and intraoperative blood loss was about 10 ml.
OUTCOMES
After 40 months of postoperative follow-up, no recurrence or appearance of other tumors were noted.
LESSONS
We recommend surgical removal of lesions in the genital area during adolescence or before adulthood. Adolescence may be the best period for surgical intervention owing to a greater risk of malignant change in adulthood. On the other hand, surgical risk should be avoided in children considering the low incidence of malignant transformation.
Topics: Diagnosis, Differential; Female; Gynecologic Surgical Procedures; Humans; Middle Aged; Nevus; Sebaceous Gland Neoplasms; Sebaceous Glands; Syphilis; Vulva; Vulvar Neoplasms
PubMed: 33725889
DOI: 10.1097/MD.0000000000025047 -
Chinese Medical Journal Sep 2020
Topics: Carcinoma; Humans; Nevus; Nevus, Pigmented; Nevus, Sebaceous of Jadassohn; Skin Neoplasms
PubMed: 32769491
DOI: 10.1097/CM9.0000000000000956 -
Bone Reports Dec 2022Epidermal Nevus Syndrome (ENS), also known as Cutaneous Skeletal Hypophosphatemia Syndrome or Linear Sebaceous Nevus Syndrome, is caused by a mosaic somatic mutation of...
A case report to assess the safety and efficacy of Burosumab, an investigational antibody to FGF23, in a single pediatric patient with Epidermal Nevus Syndrome and associated hypophosphatemic rickets.
Epidermal Nevus Syndrome (ENS), also known as Cutaneous Skeletal Hypophosphatemia Syndrome or Linear Sebaceous Nevus Syndrome, is caused by a mosaic somatic mutation of (Rat Sarcoma genes) which leads to abnormally elevated levels of fibroblast growth factor 23 (FGF23). FGF23 is a major regulator in phosphate homeostasis. There are multiple disorders, along with Epidermal Nevus Syndrome (ENS), that result in unusually high circulating levels of FGF23. This increase ultimately leads to renal phosphate wasting and reduced levels of 1,25-dihydroxy vitamin D. Across these disorders, the clinical symptoms are similar and often include osteomalacia (hypophosphatemic rickets in children), muscle weakness, fatigue, joint deformities, bone pain, and fractures. Burosumab (KRN23), is an IgG1 monoclonal antibody that binds to the FGF23 receptor and inhibits the activity of FGF23. This leads to an increase in serum phosphate levels. Burosumab emerged as a potential therapy in FGF23 overactivity disorders. Burosumab was successful in the treatment of X-linked hypophosphatemia (XLH) and is now FDA-approved for its treatment. Studies have indicated that Burosumab therapy in subjects with XLH consistently increases and sustains serum phosphorus levels and tubular reabsorption of phosphate without a major impact on urine calcium levels or vitamin D metabolism. We studied the effect of Burosumab treatment in a single pediatric patient with Epidermal Nevus Syndrome. Serum phosphorus rose gradually as we titrated the dose of Burosumab upwards. During treatment, a persistent elevation of parathyroid hormone levels was noted along with a persistent elevation of serum calcium. We presumed the patient had tertiary hyperparathyroidism. However, after the removal of three parathyroid glands, the pathology came back with a single enlarged parathyroid adenoma. Subsequently, his calcium and PTH, and phosphorus levels stabilized while taking only Burosumab. ClinicalTrials.gov NCT04320316.
PubMed: 35899095
DOI: 10.1016/j.bonr.2022.101605 -
Molecular Medicine Reports Sep 2018Keratosis pilaris (KP) and nevus comedonicus (NC) are congenital keratinized dermatoses; however, the exact etiology of these two diseases is unclear. The objective of...
Keratosis pilaris (KP) and nevus comedonicus (NC) are congenital keratinized dermatoses; however, the exact etiology of these two diseases is unclear. The objective of the present study was to identify the disease‑causing genes and their association with functional alterations in the development of KP and NC. Peripheral blood samples of one KP family, two NC families and 100 unrelated healthy controls were collected. The genomic sequences of 147 genes associated with 143 genetic skin diseases were initially analyzed from the KP proband using a custom‑designed GeneChip. A novel heterozygous missense mutation in the ATP‑binding cassette sub‑family A member 12 (ABCA12) gene, designated c.6694G>T (p.Asp2232Tyr), was identified in the KP proband and confirmed by Sanger sequencing. The same mutation was also present in the affected family members but not in the healthy family members, the two patients with NC or population‑matched controls. The predictions provided by PolyPhen‑2 and SIFT analyses suggested that the mutation may produce a damaged protein. The region surrounding the mutation is the extra‑membrane domain, which is conserved among particular species, as suggested by ClustalX; however, no ABCA12 mutations were reported in the patients with NC. As observed by immunofluorescence, ABCA12 expression was upregulated in the sebaceous glands of the patients with NC compared with that of normal controls. In summary, ABCA12‑associated mutations or alterations in expression may exhibit causative or contributive effects to the development of keratinized dermatoses, including KP and NC.
Topics: ATP-Binding Cassette Transporters; Abnormalities, Multiple; Adolescent; Adult; Amino Acid Sequence; Animals; Child; Darier Disease; Eyebrows; Female; Humans; Male; Mutation, Missense; Pedigree; Sebaceous Glands; Skin; Skin Diseases; Up-Regulation; Young Adult
PubMed: 30066947
DOI: 10.3892/mmr.2018.9342